FAM111A Gene Gracile Bone Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Development Disorders
The FAM111A Gene Gracile Bone Dysplasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FAM111A gene, which plays a crucial role in skeletal development and bone formation. This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the FAM111A gene, enabling precise detection of pathogenic variants associated with gracile bone dysplasia—a rare genetic disorder characterized by distinctive skeletal abnormalities and bone fragility.
What This Test Measures and Detects
This advanced genetic test specifically targets the FAM111A gene, which encodes a protein essential for proper bone development and mineralization. The test detects:
- Pathogenic mutations in the FAM111A gene associated with gracile bone dysplasia
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Autosomal dominant inheritance patterns
- Genetic variants affecting bone density and skeletal structure
- Mutations that disrupt normal osteoblast function and bone mineralization
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Family history of gracile bone dysplasia or similar skeletal disorders
- Unexplained skeletal abnormalities detected in infancy or childhood
- Slender, fragile bones with increased fracture risk
- Delayed bone age and growth retardation
- Characteristic facial features associated with bone dysplasia
- Multiple family members with bone development issues
- Previous inconclusive bone disorder diagnoses
Clinical Benefits of Genetic Testing
Undergoing the FAM111A Gene Gracile Bone Dysplasia NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out gracile bone dysplasia with high precision
- Early Intervention: Enables proactive management of skeletal complications
- Genetic Counseling: Provides essential information for family planning decisions
- Personalized Treatment: Guides appropriate orthopedic and developmental care
- Risk Assessment: Identifies at-risk family members for preventive monitoring
- Research Contribution: Advances understanding of rare bone disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of a pathogenic FAM111A mutation, confirming gracile bone dysplasia diagnosis
- Negative Result: Suggests absence of known FAM111A mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for future generations
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | FAM111A Gene Gracile Bone Dysplasia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including bone development concerns
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by bone disorders
- Previous diagnostic imaging and bone density reports
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about bone development disorders affect your family’s future. Our comprehensive FAM111A genetic testing provides the answers you need for informed medical decisions and proactive health management. Schedule your genetic counseling session and testing appointment today to gain valuable insights into your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your FAM111A Gene Gracile Bone Dysplasia NGS Genetic DNA Test and take control of your genetic health journey.
